Article
Two cases of steroid sulfatase deficiency with complex phenotype due to contiguous gene deletions.
American journal of medical genetics - 1 Sept 1991
Nishimura S, Masuda H, Matsumoto T, Sakura N, Matsumoto T, Ueda K
Abstract excerpt
We report contiguous gene deletions in the distal short arm of the X chromosome in two patients with ichthyosis, due to steroid sulfatase deficiency, and other complex phenotypes. One patient had chondrodysplasia punctata (CDP) and ichthyosis with a normal chromosome constitution. Another patient...
Topics
- Abnormalities, Multiple
- Arylsulfatases
- Blotting, Southern
- Child
- Child, Preschool
- Chromosome Banding
- Chromosome Deletion
- DNA
- Genetic Linkage
- Humans
- Ichthyosis
- Infant, Newborn
- Male
- Phenotype
- Steryl-Sulfatase
- X Chromosome